Li Xuchen, Gast Andreas, Rudnai Peter, Gurzau Eugene, Koppova Kvetoslava, Hemminki Kari, Kumar Rajiv
Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.
Hered Cancer Clin Pract. 2007 Mar 15;5(1):25-9. doi: 10.1186/1897-4287-5-1-25.
Polymorphisms in the ARLTS1 gene, a member of the Ras super-family, have been associated with susceptibility in different cancer types. The involvement of the gene in apoptotic signalling motivated us to study the role of ARLTS1 polymorphic variations in basal cell carcinoma of the skin (BCC). In a case-control study, 529 cases diagnosed with BCC and 533 controls from Hungary, Romania and Slovakia were genotyped for the S99S (297G>A), P131L (392C>T), L132L (396G>C), C148R (442T>C) and W149X (446G>A) polymorphisms in the ARLTS1 gene. No significant association between any of the single nucleotide polymorphisms (SNP) and risk of BCC (S99S, odds ratio (OR) 0.96, 95% confidence interval (CI) 0.601.53; P131L, OR 1.31 95%CI 0.742.31; L132L, OR 0.50, 95%CI 0.027.07; C148R, OR 0.50, 95%CI 0.691.18; and W149X, OR 1.01, 95%CI 0.372.79) was detected. Furthermore, no significant difference in the distribution of haplotypes due to five polymorphisms in the ARLTS1 gene was found between the BCC cases and controls. Our data rule out an association between variants in ARLTS1 and risk of BCC in the investigated population.
ARLTS1基因是Ras超家族的成员之一，其多态性与不同癌症类型的易感性相关。该基因参与凋亡信号传导，这促使我们研究ARLTS1基因多态性变异在皮肤基底细胞癌（BCC）中的作用。在一项病例对照研究中，对来自匈牙利、罗马尼亚和斯洛伐克的529例经诊断患有BCC的病例和533例对照进行了ARLTS1基因S99S（297G>A）、P131L（392C>T）、L132L（396G>C）、C148R（442T>C）和W149X（446G>A）多态性的基因分型。未检测到任何单核苷酸多态性（SNP）与BCC风险之间存在显著关联（S99S，优势比（OR）0.96，95%置信区间（CI）0.60 - 1.53；P131L，OR 1.31，95%CI 0.74 - 2.31；L132L，OR 0.50，95%CI 0.02 - 7.07；C148R，OR 0.50，95%CI 0.69 - 1.18；W149X，OR 1.01，95%CI 0.37 - 2.79）。此外，在BCC病例和对照之间，未发现ARLTS1基因中五个多态性导致的单倍型分布存在显著差异。我们的数据排除了ARLTS1基因变异与所研究人群中BCC风险之间的关联。
